DisGeNET - a database of gene-disease associations

MAP2K1, mitogen-activated protein kinase kinase 1, 5604

N. diseases: 389; N. variants: 43

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121908594

Entrez Id:	5604
Gene Symbol:	MAP2K1

MAP2K1

CUI:	C3809006
Disease:

CARDIOFACIOCUTANEOUS SYNDROME 3

0.800

GeneticVariation

UNIPROT

Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.

18042262

2008

dbSNP:

rs121908595

Entrez Id:	5604
Gene Symbol:	MAP2K1

MAP2K1

CUI:	C3809006
Disease:

CARDIOFACIOCUTANEOUS SYNDROME 3

0.800

GeneticVariation

UNIPROT

Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.

18042262

2008

dbSNP:

rs121908594

Entrez Id:	5604
Gene Symbol:	MAP2K1

MAP2K1

CUI:	C3809006
Disease:

CARDIOFACIOCUTANEOUS SYNDROME 3

0.800

GeneticVariation

UNIPROT

Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.

16439621

2006

dbSNP:

rs121908595

Entrez Id:	5604
Gene Symbol:	MAP2K1

MAP2K1

CUI:	C3809006
Disease:

CARDIOFACIOCUTANEOUS SYNDROME 3

0.800

GeneticVariation

UNIPROT

Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.

16439621

2006

dbSNP:

rs121908595

Entrez Id:	5604
Gene Symbol:	MAP2K1

MAP2K1

CUI:	C3809006
Disease:

CARDIOFACIOCUTANEOUS SYNDROME 3

0.800

CausalMutation

CLINVAR

Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.

16439621

2006

dbSNP:

rs121908594

Entrez Id:	5604
Gene Symbol:	MAP2K1

MAP2K1

CUI:	C3809006
Disease:

CARDIOFACIOCUTANEOUS SYNDROME 3

0.800

CausalMutation

CLINVAR

dbSNP:

rs121908595

Entrez Id:	5604
Gene Symbol:	MAP2K1

MAP2K1

CUI:	C1275081
Disease:

Cardio-facio-cutaneous syndrome

0.720

GeneticVariation

BEFREE

However, despite reduced levels of MEK1 protein and the lower abundance of MEK1 Y130C protein than wild type, <i>Mek1</i><sup>Y130C</sup> mutants showed increased ERK (MAPK) protein activation in response to growth factors, supporting a role for MEK1 Y130C in hyperactivation of the RAS/MAPK pathway, leading to CFC.

29590634

2018

dbSNP:

rs1057519729

Entrez Id:	5604
Gene Symbol:	MAP2K1

MAP2K1

CUI:	C0007131
Disease:

Non-Small Cell Lung Carcinoma

0.720

GeneticVariation

BEFREE

Using HRM and ASP-qPCR methods we identified one (0.7 %; 1/145) MEK1 substitution (Q56P) in CNS metastases of NSCLC.

26860843

2016

dbSNP:

rs397516792

Entrez Id:	5604
Gene Symbol:	MAP2K1

MAP2K1

CUI:	C0025202
Disease:

melanoma

0.720

GeneticVariation

BEFREE

Furthermore, MEK1(P124Q/S) mutations were shown to have independent kinase activity and introduction of these mutations into a BRAF-mutant melanoma cell line diminished inhibition of ERK phosphorylation by dabrafenib and enhanced clonogenic survival in the presence of dabrafenib compared with cells ectopically expressing wild-type MEK1.

25370473

2015

dbSNP:

rs1057519729

Entrez Id:	5604
Gene Symbol:	MAP2K1

MAP2K1

CUI:	C0007131
Disease:

Non-Small Cell Lung Carcinoma

0.720

CausalMutation

CLINVAR

Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

25157968

2014

dbSNP:

rs1057519731

Entrez Id:	5604
Gene Symbol:	MAP2K1

MAP2K1

CUI:	C0025202
Disease:

melanoma

0.720

GeneticVariation

BEFREE

We found that the acquired MEK1-C121S mutation in BRAF-V600E mutant melanoma conferred resistance to both vemurafenib and selumetinib but not E6201.

24448821

2014

dbSNP:

rs1057519731

Entrez Id:	5604
Gene Symbol:	MAP2K1

MAP2K1

CUI:	C0025202
Disease:

melanoma

0.720

GeneticVariation

BEFREE

Our data confirming that MEK2(C125S), but not the synonymous MEK1(C121S) protein, confers resistance to combination therapy highlight the functional differences between these kinases and the preponderance of MEK2 mutations in combination therapy-resistant melanomas.

25452114

2014

dbSNP:

rs1057519731

Entrez Id:	5604
Gene Symbol:	MAP2K1

MAP2K1

CUI:	C0025202
Disease:

melanoma

0.720

CausalMutation

CLINVAR

We found that the acquired MEK1-C121S mutation in BRAF-V600E mutant melanoma conferred resistance to both vemurafenib and selumetinib but not E6201.

24448821

2014

dbSNP:

rs121908595

Entrez Id:	5604
Gene Symbol:	MAP2K1

MAP2K1

CUI:	C1275081
Disease:

Cardio-facio-cutaneous syndrome

0.720

CausalMutation

CLINVAR

Cardio-facio-cutaneous syndrome with precocious puberty, growth hormone deficiency and hyperprolactinemia.

24637312

2014

dbSNP:

rs397516792

Entrez Id:	5604
Gene Symbol:	MAP2K1

MAP2K1

CUI:	C0025202
Disease:

melanoma

0.720

CausalMutation

CLINVAR

Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

25157968

2014

dbSNP:

rs121908595

Entrez Id:	5604
Gene Symbol:	MAP2K1

MAP2K1

CUI:	C1275081
Disease:

Cardio-facio-cutaneous syndrome

0.720

CausalMutation

CLINVAR

Molecular typing of lung adenocarcinoma on cytological samples using a multigene next generation sequencing panel.

24236184

2013

dbSNP:

rs1057519731

Entrez Id:	5604
Gene Symbol:	MAP2K1

MAP2K1

CUI:	C0025202
Disease:

melanoma

0.720

CausalMutation

CLINVAR

Preexisting MEK1 exon 3 mutations in V600E/KBRAF melanomas do not confer resistance to BRAF inhibitors.

22588879

2012

dbSNP:

rs121908595

Entrez Id:	5604
Gene Symbol:	MAP2K1

MAP2K1

CUI:	C1275081
Disease:

Cardio-facio-cutaneous syndrome

0.720

CausalMutation

CLINVAR

Case report: Noonan syndrome with multiple giant cell lesions and review of the literature.

22848035

2012

dbSNP:

rs121908595

Entrez Id:	5604
Gene Symbol:	MAP2K1

MAP2K1

CUI:	C1275081
Disease:

Cardio-facio-cutaneous syndrome

0.720

CausalMutation

CLINVAR

A structural systems biology approach for quantifying the systemic consequences of missense mutations in proteins.

23093928

2012

dbSNP:

rs1057519731

Entrez Id:	5604
Gene Symbol:	MAP2K1

MAP2K1

CUI:	C0025202
Disease:

melanoma

0.720

CausalMutation

CLINVAR

Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanoma.

22197931

2011

dbSNP:

rs1057519731

Entrez Id:	5604
Gene Symbol:	MAP2K1

MAP2K1

CUI:	C0025202
Disease:

melanoma

0.720

CausalMutation

CLINVAR

Dissecting therapeutic resistance to RAF inhibition in melanoma by tumor genomic profiling.

21383288

2011

dbSNP:

rs397516792

Entrez Id:	5604
Gene Symbol:	MAP2K1

MAP2K1

CUI:	C0025202
Disease:

melanoma

0.720

CausalMutation

CLINVAR

Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanoma.

22197931

2011

dbSNP:

rs397516792

Entrez Id:	5604
Gene Symbol:	MAP2K1

MAP2K1

CUI:	C0025202
Disease:

melanoma

0.720

CausalMutation

CLINVAR

COT drives resistance to RAF inhibition through MAP kinase pathway reactivation.

21107320

2010

dbSNP:

rs121908595

Entrez Id:	5604
Gene Symbol:	MAP2K1

MAP2K1

CUI:	C1275081
Disease:

Cardio-facio-cutaneous syndrome

0.720

CausalMutation

CLINVAR

Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations.

19156172

2009

dbSNP:

rs397516792

Entrez Id:	5604
Gene Symbol:	MAP2K1

MAP2K1

CUI:	C0025202
Disease:

melanoma

0.720

GeneticVariation

BEFREE

One such mutation, MEK1(P124L), was identified in a resistant metastatic focus that emerged in a melanoma patient treated with AZD6244.

19915144

2009